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BC: Articoli scritti da C. Zuppi

La misura delle catene leggere libere nel liquor nella diagnosi della sclerosi multipla
Cerebrospinal fluid kappa and lambda free light chains for the diagnosis of multiple sclerosis
<p>Presently, oligoclonal band (OCB) detection is considered the gold standard for Multiple Sclerosis (MS) diagnosis. The technique is however cumbersome and requires interpretative expertise for the evaluation of dubious OCB patterns. Recently, the kappa and lambda free light chains (FLCs) measurement in cerebrospinal fluid (CSF) has been suggested as potential diagnostic tool. We describe here two case reports where the FLCs determination contributed importantly to the diagnosis. A 43 years old female with left homonym hemianopia and frontal headache showed a negative OCBs pattern showing only a single monoclonal band. CSF and serum FLCs were within the reference range while kFLC index was positive. Visual evoked potentials and magnetic resonance investigation (MRI) were suggestive of clinically isolated syndrome. A 55 year old female with visual left homonym hemianopia and mild retroorbital pain showed very similar findings with a negative pattern for OCBs, and a single monoclonal band. CSF FLCs were slightly above the upper value of the reference range and kFLC index was positive. Evoked potentials and MRI were suggestive for MS diagnosis. In conclusion, the FLCs quantification in CSF could be a valid tool to support MS diagnosis especially in the presence of unclear OCB results.</p>
Biochimica Clinica ; 42(2) e22-e25
Casi clinici - Case report
 
Utilità della spettroscopia all’infrarosso per l’analisi dei calcoli urinari
Usefulness of infrared spectroscopy for stone analysis: a case study
<p>A 22-year-old male with recurrent bilateral stone disease and positive family history for stones was referred in March 2015 to the Metabolic Stone Clinic of the Policlinico Gemelli Hospital; a metabolic assessment revealed a number of abnormalities including hypercalciuria, hypocitraturia and abnormally high fasting urine pH. The previously expelled urinary calculus was sent to the clinical laboratory for the biochemical analysis by the infrared method. Fourier transform infrared spectroscopy (FT-IR) analysis identifying brushite and carbapatite, together with the finding of high urine pH, raised the suspicion of distal renal tubular acidosis which was subsequently confirmed by the urinary acidification test. The semiquantitative method of stone composition analysis would have yielded a mixture of calcium, ammonium, phosphate and magnesium, thus likely directing the diagnostic work-up, together with the abnormally high urine pH, towards infectious stones (e.g., by urease-producing bacteria). The information obtained by FT-IR analysis allowed clinicians to correctly hypothesize a urinary acidification deficit, which was subsequently treated with potassium citrate supplements.</p>
Biochimica Clinica ; 41(2) e13-e14
Casi clinici - Case report
 
Sviluppo di un metodo in cromatografia liquida associata alla spettrometria di massa tandem per valutare la permeabilità intestinale nella pratica clinica
Development of a liquid chromatography-tandem mass spectometry (LC-MS/MS) method to evaluate intestinal permeability in clinical practice
<p>The intestinal permeability test is a non-invasive method for assessing gastrointestinal mucosal integrity. The lactulose/mannitol ratio is used to assess the intestinal barrier function. Aim of this work was to develop a rapid and robust method for the simultaneous analysis of lactulose and mannitol in urine by LC-MS/MS. Calibration curves were prepared in water:acetonitrile 20:80. Raffinose was used as internal standard at 25 mg/L in water:acetonitrile 20:80. 50 &mu;L of urine sample was added to 450 &mu;L of internal standard solution, and then vortexed and centrifuged. A 200 &mu;L aliquot was transferred into a vial and placed in the autosampler for LCMS/MS analysis. The chromatographic separation was performed using a Phenomenex Luna NH2 column operating at a flow rate of 200 &mu;L/min and eluted with a linear gradient from 20 to 80 water in acetonitrile. The total run time was 16 min. The MS operates in electrospray negative mode. The method was validated according to European Medicine Agency guidelines. Linearity ranged from 10 to 800 mg/L for mannitol and from 2.5 to 400 mg/L for lactulose, respectively. Inter-assay imprecision (expressed as CV) was &lt;13% for both analytes. Recovery was &gt;85%.</p>
Biochimica Clinica ; 41(1) 060-063
Contributi scientifici - Scientific papers
 
Ruolo della spettroscopia infrarossa in trasformata di Fourier nella valutazione della calcolosi urinaria
Role of Fourier transform infrared (FT-IR) spectroscopy in the evaluation of urinary stone disease
<p>Nephrolithiasis is a common disease occurring in both industrialized and developing countries and mainly affecting&nbsp;adults aged 20-60 years. The determination of crystalline and molecular composition and the quantification of all&nbsp;stone components are helpful to establish the etiology of urinary stone disease. Different methodologies exist for the&nbsp;analysis of renal stones. In our laboratory, we used the chemical spot test, which is the most popular method for&nbsp;routine stone analysis. However, this method is relatively inaccurate and does not allow distinguishing between the&nbsp;crystalline phases. In this paper, we evaluated the quantitative FT-IR spectroscopy technique for a possible&nbsp;introduction in our laboratory. We analyzed 100 urinary stones, divided into 3 groups: pure stones, mixed stones, and&nbsp;pure stones with substances in trace. Results of each group were compared with those obtained with chemical spot&nbsp;test. A total or partial disagreement between the two methods was observed in 59% of pure stones, in 86.6% of mixed&nbsp;stones and in 100% of pure stones with substances in trace, respectively, suggesting the replacement of the chemical&nbsp;test with FT-IR spectroscopy.</p>
Biochimica Clinica ; 40(1) 28-32
Contributi scientifici - Scientific Papers
 
Diagnosi molecolare di primo livello nella fibrosi cistica: confronto tra tre metodiche commerciali
First-level molecular diagnosis of cystic fibrosis (CF): comparison of three commercial procedures
<p>CF is one&nbsp;of the most common life-threatening autosomal recessive disorders among Caucasians. To provide an useful CF test&nbsp;and improve the detection rate of CF mutation in the general population, the selection of a mutation panel should be&nbsp;considered for covering the population disease risk. The aim of this study was to evaluate and to compare the&nbsp;performance of 3 different analytical CF molecular assays: INNO-LiPA, NanoChip CF70 and xTAG Cystic Fibrosis.&nbsp;All 3 mutation panels showed a good detection rate in our geographical area. We analyzed 100 DNA samples with&nbsp;INNO-LiPA and NanoChip CF70; half of those samples were also analyzed with xTAG Cystic Fibrosis. All tests&nbsp;included the most frequent CF mutations along with Poly-T screening. As some discordant results were found, some&nbsp;samples were also analyzed by CFTR massive parallel sequencing (MPS) with MASTR v2 assay (Multiplicom) run&nbsp;on 454 GS Junior. INNO-LiPA and NanoChip were concordant for 99 out of 100 samples. Only one, carrying the&nbsp;852del22 mutation, resulted as discordant: MPS confirmed the &ldquo;wild type&rdquo; genotype previously obtained by&nbsp;NanoCHIP. On the contrary, in a sample genotyped by both INNO-LiPA and MPS as compound heterozygote (3272-&nbsp;26 A/G; 621+3 A/G), NanoChip only detected the 3272-26 A/G mutation. Finally, 47 out of 50 samples were correctly&nbsp;genotyped by xTAG Cystic Fibrosis.</p>
Biochimica Clinica ; 39(3) 193-198
Contributi scientifici - Scientific Papers
 
Is there a role for serum cystatin C as a biomarker of multiple sclerosis?
<p>Multiple sclerosis (MS) is the most common chronic demyelinating disorder of the central nervous system (CNS). No&nbsp;single clinical feature or diagnostic test is sufficient for the diagnosis of MS and the clinical assessment is very difficult,&nbsp;mainly at the early disease stages. Considering MS as a disorder confined to CNS compartment and related to CNS&nbsp;specific pathogenetic pathways, several studies selectively investigated cerebrospinal fluid (CSF) components to&nbsp;detect predictive/prognostic MS markers. Several molecules, such as CSF 14-3-3 protein, tau protein and cystatin C,&nbsp;have been found dysregulated, even though with discordant results. We analyzed serum and CSF cystatin C&nbsp;concentrations of MS patients, comparing them with results obtained from individuals affected by other neurological&nbsp;diseases. We found no statistical differences between groups in CSF cystatin C, cystatin C difference (<span style="font-family:symbol">D</span><sub>CystC</sub> = CSF&nbsp;- serum cystatin C) and ratio (CystC<sub>ratio</sub> = CSF/serum cystatin C). Interestingly, serum cystatin C concentrations of&nbsp;MS patients resulted significantly lower than in control population [0.71 (interquartile range, 0.64-0.84) mg/L vs. 0.80&nbsp;(0.67-0.93) mg/L, P=0.008], with no gender-related differences. The pathophysiologic explanation of this finding is&nbsp;unclear, although it cannot be excluded that pathologic mechanisms that lead to MS may involve not only the CNS&nbsp;compartment, but also systemic pathogenetic pathways.</p>
Biochimica Clinica ; 38(3) 218-221
Contributi scientifici - Scientific Papers
 
Un caso di carenza di glucosio-6-fosfato deidrogenasi e anemia emolitica cronica non sferocitica
Glucose-6-phosphate dehydrogenase (G6PD) deficiency and chronic non-spherocytic hemolytic anemia: a case report
A. Minucci  |  G. Canu  |  C. Zuppi  |  E. Capoluongo  | 
<p>G6PD deficiency is an X-linked disorder, due to more than 190 mutations that determine ~400 different&nbsp;phenotypes. Herein, we report a case of a symptomatic male newborn affected by severe G6PD deficiency due to a&nbsp;novel <em>&ldquo;de novo&rdquo;</em> mutation in the exon 13 of the G6PD gene: c.1465C&gt;T (named &ldquo;G6PD Buenos Aires&rdquo;)&rdquo;. G6PD activity&nbsp;is affected by NADP<sup>+</sup> amount through at least two mechanisms. On one hand, the activity of the enzyme is directly&nbsp;related to the NADP<sup>+</sup>/NADPH ratio; on the other hand, NADP<sup>+</sup> is necessary for stabilizing the enzyme in the proper&nbsp;conformation. The c.1465C&gt;T mutation, causing a proline to serine substitution at 489 amino-acid position in the&nbsp;&ldquo;NADP<sup>+</sup> structural site&rdquo;, prevents the NADP<sup>+</sup> to play the latter function, explaining the severe phenotype of the child.</p>
Biochimica Clinica ; 38(2) 151-153
Casi clinici - Case report
 
Distribuzione delle concentrazioni di lipocalina associata alla gelatinasi dei neutrofili (NGAL) nelle urine di soggetti con funzionalità renale in ambito fisiologico
Urinary neutrophil gelatinase-associated lipocalin (NGAL) concentrations in subjects with preserved renal function
R. Penitente  |  C. Zuppi  |  S. Baroni  | 
<p>The role of NGAL as an early and sensitive biomarker of acute kidney injury (AKI) has been confirmed in&nbsp;several studies, but its sensibility in highlighting subclinical renal tubular dysfunction is still uncertain. The NGAL&nbsp;biological variability, the lack of specificity of immunoassays and the extra renal sources of NGAL can generate&nbsp;difficulties in evaluating NGAL basal values and in establishing diagnostic cut-offs. Moreover, the optimal measurement&nbsp;unit to report NGAL values is still controversial. The aim of this study was to measure urinary NGAL in a population with&nbsp;preserved renal function in order to evaluate the reference interval, expressing results as both mass concentration (<span style="font-family:symbol">&mu;</span>g/L)&nbsp;and ratio to urinary creatinine (<span style="font-family:symbol">&mu;</span>g/g). 170 apparently healthy subjects (90 men and 80 women, ranging from 31 to 80&nbsp;years) with normal renal function were enrolled in the study. NGAL was measured in the second morning void urinary&nbsp;sample by Abbott reagents on Architect analyzer; creatinine was assayed by enzymatic method on Roche Cobas C311.&nbsp;The distribution of NGAL values in the population was highly asymmetric, either expressed as mass concentration&nbsp;(median, 19.7 <span style="font-family:symbol">&mu;</span>g/L; 95<sup>th</sup> percentile upper reference limit ,106.7 <span style="font-family:symbol">&mu;</span>g/L) or normalized to creatinine (median, 22.0 <span style="font-family:symbol">&mu;</span>g/g; 95<sup>th</sup>&nbsp;percentile upper reference limit,160.5 <span style="font-family:symbol">&mu;</span>g/g). When expressed as ratio to creatinine, NGAL values were higher in females&nbsp;than in males (median, 28.2 vs. 21.4 <span style="font-family:symbol">&mu;</span>g/g; 95<sup>th</sup> percentile upper reference limit, 199.7 vs. 169.5 <span style="font-family:symbol">&mu;</span>g/g), due to lower&nbsp;urinary creatinine concentrations in females.</p>
Biochimica Clinica ; 38(1) 18-22
Contributi scientifici - Scientific papers
 
Valori falsamente elevati di triodotironina libera in una paziente affetta da tiroidite cronica e gozzo multinodulare
Falsely increased free triiodothyronine values in a woman affected by thyroiditis and multinodular goiter
<p>We&nbsp;describe a case of a 63-years old woman affected by Hashimoto&rsquo;s thyroiditis and multinodular goiter. Her laboratory&nbsp;results showed elevated free triiodothyronine (FT3) concentrations (18.5 ng/L), with free thyroxine (FT4) and&nbsp;thyrotropin (TSH) within the physiologic range. On the basis of these results, she started methimazole therapy, with&nbsp;persistence of inappropriately elevated FT3 concentrations. The therapy was thus stopped and blood examination&nbsp;was repeated after one month in our laboratory: concentrations of thyroid tests were within the physiologic range,&nbsp;including FT3 (2.8 ng/L). The difference between this result and that previously obtained raised the suspicion of the&nbsp;presence of an interference in the first result. In fact, in our laboratory a competitive electrochemiluminescence&nbsp;immunoassay with labeled antibody is used, while the first laboratory employed a competitive chemiluminescence&nbsp;immunoassay with labeled analogue, which has a more important risk of interference. After treating sample by&nbsp;polyethylene glycol, FT3 resulted indeed normal also by the immunoassay used by the first laboratory.</p>
Biochimica Clinica ; 38(1) 70-72
Casi clinici - Case report
 
Una gammopatia monoclonale di difficile tipizzazione
A monoclonal gammopathy of difficult characterization
F. Gulli  |  U. Basile  |  S. Borrello  |  C. Zuppi  | 
<p>IgD monoclonal gammopathy is a rare event, but its recognition and management are quite important because the condition is potentially life-threatening. This paper reports a peculiar case of IgD monoclonal gammopathy. The monoclonal protein was rapidly degraded by proteolysis and the usual laboratory tests showed different immunochemical patterns. The study of the proteolitic dynamic of the monoclonal immunoglobulin allowed us to obtain the complete characterization of the monoclonal component.</p>
Biochimica Clinica ; 37(1) 64-67
Casi Clinici - Case Report